U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Moderate expressive language delay

MedGen UID:
504293
•Concept ID:
C3532933
•
Mental or Behavioral Dysfunction
SNOMED CT: Moderate expressive language delay (62211000119103)
 
HPO: HP:0011345

Definition

A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVModerate expressive language delay

Professional guidelines

PubMed

Health supervision for children and adolescents with 16p11.2 deletion syndrome.
Chung WK, Herrera FF; Simon's Searchlight Foundation
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006316. PMID: 38050025Free PMC Article

Recent clinical studies

Etiology

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN
Cold Spring Harb Mol Case Stud 2018 Aug;4(4) Epub 2018 Aug 1 doi: 10.1101/mcs.a002899. PMID: 29802153Free PMC Article

Diagnosis

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
Gonzalez Garcia A, Malone J, Li H
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005322. PMID: 32532882Free PMC Article
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN
Cold Spring Harb Mol Case Stud 2018 Aug;4(4) Epub 2018 Aug 1 doi: 10.1101/mcs.a002899. PMID: 29802153Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...